A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1032271



Internal ID19121493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12403406..12649550hg38UCSC Ensembl
Innerchr8:12260915..12507059hg19UCSC Ensembl
Innerchr8:12305286..12551430hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38246145
hg19246145
hg18246145
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7065n100
Supporting Variantsnssv3666883, nssv3666885, nssv3666881, nssv3666886, nssv3760174, nssv3666882, nssv3666884
Samples
Known GenesFAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC729732
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1032271
Frequency
Sample Size11257
Observed Gain5
Observed Loss2
Observed Complex0
Frequencyn/a


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